ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) (rs2228526)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000116997 SCV000222802 benign not specified 2012-06-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000116997 SCV000226719 benign not specified 2014-12-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116997 SCV000302374 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322054 SCV000362797 benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378942 SCV000362798 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287947 SCV000362799 benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001519186 SCV001728011 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV001519186 SCV001943699 benign not provided 2019-01-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17438655)
Genetic Services Laboratory, University of Chicago RCV000116997 SCV000151118 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000116997 SCV001741556 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000116997 SCV001957968 benign not specified no assertion criteria provided clinical testing

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